Variant report

Variant	rs56020043
Chromosome Location	chr8:107807478-107807479
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11986991	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11987857	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11989160	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11992673	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993873	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16875098	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875115	0.86[AMR][1000 genomes]
rs2981196	0.87[ASN][1000 genomes]
rs2981199	0.87[ASN][1000 genomes]
rs2981227	0.87[ASN][1000 genomes]
rs3018927	0.87[ASN][1000 genomes]
rs3018928	0.87[ASN][1000 genomes]
rs3018929	0.87[ASN][1000 genomes]
rs3018931	0.87[ASN][1000 genomes]
rs3018934	0.87[ASN][1000 genomes]
rs3116137	0.87[ASN][1000 genomes]
rs56246834	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56336546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514997	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6469081	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999688	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7014065	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7014289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684512	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs998880	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv611846	chr8:107778324-107819368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107806200-107808400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr8:107806200-107809400	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:107806400-107807600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:107806600-107808400	Enhancers	HUVEC	blood vessel
5	chr8:107806600-107809600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:107806800-107808400	Enhancers	Primary T cells from cord blood	blood
7	chr8:107807000-107807600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:107807000-107807600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:107807000-107807600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:107807000-107807600	Enhancers	Fetal Stomach	stomach
11	chr8:107807000-107807800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:107807000-107807800	Enhancers	Fetal Kidney	kidney
13	chr8:107807200-107807600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:107807200-107807600	Enhancers	Aorta	Aorta
15	chr8:107807200-107807800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:107807200-107808400	Enhancers	Fetal Thymus	thymus
17	chr8:107807400-107807800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:107807400-107807800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr8:107807400-107807800	Enhancers	Fetal Lung	lung

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